Publications by authors named "Inas S M Sayed"

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COL1-related overlap disorder: An emerging phenotype linked to mono- and bi-allelic COL1A1/2 variants.
Nehal F Hassib, Rasha M Elhossini, Inas S M Sayed, Mona S Aglan, Mohamed S Abdel-Hamid

Arch Oral Biol· October 2025

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Delineating the Clinical and Brain Imaging Characteristics of the Neonatal Form of CSTB -Related Neurodevelopmental Disorders.
Mohamed S Abdel-Hamid, Sherif F Abdel-Ghafar, Inas S M Sayed, Maha S Zaki, Ghada M H Abdel-Salam

Clin Genet· August 2025

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Further Evidence of a Continuum in the Clinical Spectrum of Dominant -Related Disorders and Implications in Cerebellar Anomalies.
Ghada M H Abdel-Salam, Hanan H Afifi, Sahar N Saleem, Mohamed I Gadelhak, Manar A El-Serafy, Inas S M Sayed

Mol Syndromol· December 2022

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A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasia.
Ghada M H Abdel-Salam, Marian Girgis, Maha M Eid, Inas S M Sayed, Mohamed S Abdel-Hamid

J Hum Genet· November 2022

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Confirmation of a Phenotypic Entity for Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity.
Eman A Rabie, Inas S M Sayed, Khalda Amr, Hoda A Ahmed, Mostafa I Mostafa, Heba El-Sayed

Genes (Basel)· June 2022

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Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait.
Ghada M H Abdel-Salam, Ruizhi Duan, Mohamed S Abdel-Hamid, Inas S M Sayed, Shalini N Jhangiani

Am J Med Genet A· February 2022

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OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype.
Ghada M H Abdel-Salam, Mohamed S Abdel-Hamid, Inas S M Sayed, Ulrich Zechner, Hanno Jörn Bolz

J Hum Genet· January 2022

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Gene Mutations of the Three Ectodysplasin Pathway Key Players (, , and ) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.
Hoda A Ahmed, Ghada Y El-Kamah, Eman Rabie, Mostafa I Mostafa, Maha R Abouzaid, Inas S M Sayed

Genes (Basel)· September 2021

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KBG syndrome in two patients from Egypt.
Inas S M Sayed, Mohamed S Abdel-Hamid, Ghada M H Abdel-Salam

Am J Med Genet A· June 2020

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Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.
Ghada M H Abdel-Salam, Inas S M Sayed, Hanan H Afifi, Sherif F Abdel-Ghafar, Maha R Abouzaid

Am J Med Genet A· June 2020

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Bilateral Calcification of Basal Ganglia in a Patient with Duplication of Both 11q13.1q22.1 and 4q35.2 with New Phenotypic Features.
Maha S Zaki, Ola M Eid, Maha M Eid, Amal M Mohamed, Inas S M Sayed

Cytogenet Genome Res· February 2020

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PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly.
Ranad Shaheen, Monika Tasak, Sateesh Maddirevula, Ghada M H Abdel-Salam, Inas S M Sayed

Hum Genet· March 2019

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Phenotypic and molecular insights into PQBP1-related intellectual disability.
Ghada M H Abdel-Salam, Noriko Miyake, Mohamed S Abdel-Hamid, Inas S M Sayed, Mohamed I Gadelhak

Am J Med Genet A· November 2018

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